Новые горизонты цитогенетики при первичном миелофиброзе

Abstract

ABSTRACT Aim. To evaluate the potential of a new cytogenetic technique in patients with primary myelofibrosis (PMF). Materials and methods. 48-hour blood cell cultures (accord-ing to Singh et al., 2013) were used for cytogenetic study in 11 PMF patients (5 female, 6 men, aged 32–60 years; median 48.6 years). GTG-banding and different types of fluorescence in situ hybridization (FISH) techniques were used for identifica-tion of chromosomal aberrations. Results. The incidence of abnormal karyotypes in blood cul-tures was significantly higher than that in standard bone mar-row cultures (82 vs 27 %; p < 0.01). The polyploid clones were found in blood cultures of 45 % of patients. Structural chro-mosomal aberrations were found in chromosomes 6, 1, 3, as well as 16 and 17 (in 2 and 1 patients with each aberration, respectively). In all but one patients these abnormalities in dip-loid and polyploid metaphases were identical. Partial 1q tri-somy resulted from adding of additional (1q21–1q44) material translocated to the short arm of chromosome 5 to the material of 2 normal homologue of chromosome 1. It seems that 1q+, i(17q) and some others chromosomal abnormalities were sec-ondary, whereas 6p21 locus involvement may be a primary defect in PMF. The t(3;6)(q25;p21) translocation described for the first time and confirmed by FISH should be considered a variant of well-known translocation t(1;6). Allo-HSCT in 2 pa-tients with 1q+ was successful, whereas there were problems with engraftment in a female patient with prognostically unfa-vorable t(3;3)(q21;q26) translocation associated with the